Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		group 0.500 strong 1.000 0 0 2007 2018
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly 		disease 0.410 strong 1.000 0 0 2012 2012
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		disease 0.170 None 1.000 0 0 2007 2014
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.150 None 1.000 0 0 2007 2014
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease 0.140 None 1.000 0 0 2008 2010
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.130 None 1.000 0 0 2007 2008
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		disease 0.120 None 1.000 0 0 2007 2008
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease 0.110 None 1.000 0 0 2018 2018
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.110 None 1.000 0 0 2007 2007
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		phenotype 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		phenotype 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem 		phenotype 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C1842162
Disease: Scapuloperoneal amyotrophy
Scapuloperoneal amyotrophy 		phenotype 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C1858127
Disease: Limb-girdle muscle weakness
Limb-girdle muscle weakness 		phenotype 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C1847117
Disease: Dilated fourth ventricle
Dilated fourth ventricle 		phenotype 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C1847762
Disease: Cerebellar cyst
Cerebellar cyst 		phenotype 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C1848207
Disease: Poor speech
Poor speech 		phenotype 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C1849097
Disease: Loss of ability to walk
Loss of ability to walk 		phenotype 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C1850794
Disease: Proximal amyotrophy
Proximal amyotrophy 		disease 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C1852534
Disease: Hypoplastic male external genitalia
Hypoplastic male external genitalia 		phenotype 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C1855285
Disease: Protruding ear
Protruding ear 		phenotype 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		phenotype 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		protein O-mannosyltransferase 2 0.544 0.615 9.4E-12
CUI: C1857353
Disease: Posterior fossa cyst
Posterior fossa cyst 		phenotype 0.100 None 0 0